Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import

Heterozygous mutations of the human PHOX2B gene, a key regulator of autonomic nervous system development, lead to congenital central hypoventilation syndrome (CCHS), a neurodevelopmental disorder characterized by a failure in the autonomic control of breathing. Polyalanine expansions in the 20-resid...

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Bibliographic Details
Published in:J Biol Chem
Main Authors: Di Lascio, Simona, Belperio, Debora, Benfante, Roberta, Fornasari, Diego
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2016
Subjects:
Gene Regulation
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4933246/
https://ncbi.nlm.nih.gov/pubmed/27129232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.679027
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